KRT14 gene

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:CK14
cytokeratin 14
keratin, type I cytoskeletal 14
gptkbp:associatedWith gptkb:epidermolysis_bullosa_simplex
Naegeli-Franceschetti-Jadassohn syndrome
dermatopathia pigmentosa reticularis
gptkbp:discoveredIn 1980s
gptkbp:encodes keratin 14
gptkbp:Entrez_Gene_ID 3861
gptkbp:expressedIn basal cells of the epidermis
gptkbp:function structural support in epithelial cells
gptkbp:HGNC_ID HGNC:6446
https://www.w3.org/2000/01/rdf-schema#label KRT14 gene
gptkbp:locatedOnChromosome gptkb:chromosome_17
17q21.2
gptkbp:mutationAssociatedWith skin blistering disorders
gptkbp:OMIM 148066
gptkbp:orthologInMouse Krt14
gptkbp:proteinFamily type I keratins
gptkbp:UniProtID P02533
gptkbp:bfsParent gptkb:K14
gptkbp:bfsLayer 7